An eighteen month-old infant with Cornelia de Lange syndrome: a case report

Document Type: Case Report

Authors

1 Associate Professor of Neonatology, Neonatal Research Center, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

2 BSc in Midwifery, Mashhad University of Medical Sciences, Mashhad, Iran

3 Fellowship of neonatology, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error.
In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life.
In this article we present an infant with multiple congenital anomaly who finally diagnosed as Cornelia de Lange syndrome.

Keywords


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